rs80338649, LYST

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
14 1.000 0.160 1 235806513 frameshift variant A/- delins 0.700 0
CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
CUI: C4016992
Disease: CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
7 1.000 0.160 1 235806513 frameshift variant A/- delins 0.700 0